ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3613G>C (p.Asp1205His)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005017246 SCV005640897 uncertain significance Polycystic kidney disease, adult type 2024-05-16 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005017246 SCV005919485 likely benign Polycystic kidney disease, adult type 2024-04-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004739974 SCV005353893 uncertain significance PKD1-related disorder 2024-04-03 no assertion criteria provided clinical testing The PKD1 c.3613G>C variant is predicted to result in the amino acid substitution p.Asp1205His. This variant was reported in an individual with a family history of polycystic kidney disease (Table 2, He et al 2018. PubMed ID: 30333007). This variant is reported in 0.089% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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